A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye2014196.pdf
Reference30 articles.
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2. Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA . Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. Hum Mol Genet. 2010; 19 (7): 1302–1313.
3. Vijayasarathy C, Sui R, Zeng Y, Yang G, Xu F, Caruso RC et al. Molecular mechanisms leading lo null-protein product from retinoschisin(RS1) singal-sequence mutants in X-linked retinoschisis (XlRS) disease. Hum Mutat 2010; 31 (11): 1251–1260.
4. Reid SN, Akhmedov NB, Piriev NI, Kozak CA, Danciger M, Farber DB . The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. Gene 1999; 227 (2): 257–266.
5. Khan NW, Jamison JA, Kemp JA, Sieving PA . Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vision Res. 2001; 41 (28): 3931–3942.
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1. Whole‑exome sequencing identifies an RS1 variant in a Chinese family with X‑linked retinoschisis;Experimental and Therapeutic Medicine;2021-10-05
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3. Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology;BMC Medical Genomics;2021-03-29
4. Requirements for Neurogenin2 during mouse postnatal retinal neurogenesis;Developmental Biology;2018-10
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